KRT14 Gene Epidermolysis Bullosa Simplex Weber-Cockayne Type NGS Genetic DNA Test
Understanding KRT14 Gene Testing for Epidermolysis Bullosa
The KRT14 Gene Epidermolysis Bullosa Simplex Weber-Cockayne Type NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying specific genetic mutations associated with this inherited skin disorder. Epidermolysis bullosa simplex (EBS) is characterized by skin fragility and blistering due to defects in structural proteins that maintain skin integrity. The Weber-Cockayne subtype specifically affects the hands and feet, typically manifesting after mechanical trauma or heat exposure.
What This Advanced Genetic Test Measures
This comprehensive NGS (Next-Generation Sequencing) test specifically analyzes the KRT14 gene, which encodes keratin 14 – a crucial structural protein in the basal layer of the epidermis. The test detects:
- Point mutations in the KRT14 gene sequence
- Small insertions and deletions affecting protein function
- Genetic variants that disrupt keratin filament assembly
- Mutations leading to cytoskeletal instability in skin cells
Who Should Consider KRT14 Genetic Testing?
This specialized test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
Clinical Indications and Symptoms
- Recurrent skin blistering primarily on palms and soles
- Blister formation following minor trauma or friction
- Family history of epidermolysis bullosa
- Delayed blistering onset in childhood or adolescence
- Heat-induced skin fragility during warm weather
- Nail dystrophy or thickening
- Oral mucosal involvement in some cases
Comprehensive Benefits of KRT14 Genetic Testing
Undergoing this advanced genetic analysis provides multiple significant advantages for patients and healthcare providers:
Diagnostic and Clinical Benefits
- Accurate Diagnosis: Confirms Weber-Cockayne type EBS with genetic precision
- Treatment Guidance: Informs appropriate wound care and preventive strategies
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps predict disease severity and progression
- Differential Diagnosis: Distinguishes from other EB subtypes and skin conditions
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your KRT14 gene test results effectively:
Result Interpretation Guidance
- Positive Result: Identifies pathogenic mutation in KRT14 gene, confirming diagnosis
- Negative Result: No mutation detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Important information for reproductive planning
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Advanced NGS Technology
- Specialty: Dermatology Genetics
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and dermatology specialists ensures comprehensive care coordination.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your skin condition affect your quality of life. Our KRT14 Gene Epidermolysis Bullosa Simplex Weber-Cockayne Type NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health and future.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health with confidence and precision.
